Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.

Author:

Kalaydjieva L,Dworniczak B,Aulehla-Scholz C,Kremensky I,Bronzova J,Eigel A,Horst J

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria;Chakraborty, R.; Lidksy, A.S.; Daiger, S.P.;Hum Genet,1987

2. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria;DiLella, A.G.; Marvit, J.; Lidsky, A.S.;Nature,1986

3. An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2;DiLella, A.G.; Marvit, J.; Brayton, K.; Woo, S.L.C.;Nature,1987

4. Phenylketonuria: a distribution of DNA diagnostic patterns in German families;Aulehla-Scholz, C.; Vorgert, M.; Sautter, E.;Hum Genet,1988

5. Clinical and molecular hFertaenrcoeg.enAemitJy of phenylalanine hydroxylase Hum Genet;Rey, F.; Berthelon, M.; Caillaud, C.,1988

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